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Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene Transfer

This study has been terminated.
(Study was suspended until FDA approved the IND. Study has since been terminated and a new screening process has been implemented.)
Sponsor:
Information provided by (Responsible Party):
Alfred Lane, Stanford University
ClinicalTrials.gov Identifier:
NCT00533572
First received: September 20, 2007
Last updated: December 12, 2012
Last verified: December 2012
History of Changes
  Purpose

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a severe inherited blistering skin disease caused by absence of type VII collagen. Patients with RDEB develop large, severly painful blisters and open wounds from minor trauma to their skin. In the future, we hope to start a gene transfer study on a specific group of RDEB subjects and we are screening subjects for that potential trial now.


Condition
Epidermolysis Bullosa Dystrophica

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene Transfer

Resource links provided by NLM:

U.S. FDA Resources

Further study details as provided by Stanford University:

Primary Outcome Measures:
  • Disease documentation [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    Documentation of disease

  • documentation of disease [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    documentation of disease


Enrollment: 1
Study Start Date: August 2007
Study Completion Date: August 2008
Primary Completion Date: August 2008 (Final data collection date for primary outcome measure)
Detailed Description:

This study is a preparation for a gene transfer trial. In the gene transfer trial, we will transfect autologous RDEB keratinocytes with a type VII collagen containing retrovirus vector. We then plan to graft the genetically engineered and corrected autologous keratinocytes back on to wounds of the RDEB subject. We expect the grafts to attach as normal keratinocytes and replace the damaged skin with skin that is able to make type VII collagen and anchor normally to the dermis. We are trying to define the number of subjects 18 or older who meet the criteria for the gene transfer trial. We are offering the subjects the opportunity to be evaluated for the potential trial.

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Adults with RDEB

Criteria

Inclusion Criteria:1. Clinical diagnosis of RDEB by local dermatologist 2. 18 years of age or more and willing to give consent 3. Estimated to have at least 100 to 200 sq. cm. areas of open erosions on the trunk or extremities suitable for skin grafting 4. Ability to undergo adequate anesthesia to allow grafting procedures to take place 5. Parents are alive, do not have EB, and they are willing to give consent for genetic testing

Exclusion Criteria:1. Medical instability limiting ability to travel to Stanford University Medical Center 2. Participation in another clinical trial without prior approval 3. The presence of medical illness expected to complicate participation and/or compromise the safety of this technique

  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00533572

Locations
United States, California
Stanford University School of Medicine
Stanford, California, United States, 94305
Sponsors and Collaborators
Stanford University
Investigators
Principal Investigator: Alfred T Lane Stanford University
  More Information

No publications provided

Responsible Party: Alfred Lane, Professor of Dermatology and Pediatrics, Stanford University
ClinicalTrials.gov Identifier: NCT00533572     History of Changes
Other Study ID Numbers: 97822, 8557
Study First Received: September 20, 2007
Last Updated: December 12, 2012
Health Authority: United States: Food and Drug Administration

Additional relevant MeSH terms:
Epidermolysis Bullosa
Epidermolysis Bullosa Dystrophica
Skin Abnormalities
Congenital Abnormalities
Skin Diseases, Genetic
 Genetic Diseases, Inborn
Skin Diseases
Skin Diseases, Vesiculobullous
Collagen Diseases
Connective Tissue Diseases

ClinicalTrials.gov processed this record on June 18, 2013